Literature DB >> 9140387

A dominant-negative mutation of the growth hormone receptor causes familial short stature.

R M Ayling, R Ross, P Towner, S Von Laue, J Finidori, S Moutoussamy, C R Buchanan, P E Clayton, M R Norman.   

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Year:  1997        PMID： 9140387     DOI： 10.1038/ng0597-13

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  31 in total

1.  Growth hormone insensitivity: a widening diagnosis.

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4.  Transgenic Wuzhishan minipigs designed to express a dominant-negative porcine growth hormone receptor display small stature and a perturbed insulin/IGF-1 pathway.

Authors:  Feida Li; Yong Li; Huan Liu; Xingju Zhang; Chuxin Liu; Kai Tian; Lars Bolund; Hongwei Dou; Wenxian Yang; Huanming Yang; Nicklas Heine Staunstrup; Yutao Du
Journal:  Transgenic Res       Date:  2015-10-28       Impact factor: 2.788

Review 5.  Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Authors:  Helen L Storr; Sumana Chatterjee; Louise A Metherell; Corinne Foley; Ron G Rosenfeld; Philippe F Backeljauw; Andrew Dauber; Martin O Savage; Vivian Hwa
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Review 6.  New insights in prolactin: pathological implications.

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Journal:  Nat Rev Endocrinol       Date:  2015-03-17       Impact factor: 43.330

7.  Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.

Authors:  Liliana Bezrodnik; Daniela Di Giovanni; María Soledad Caldirola; María Esnaola Azcoiti; Troy Torgerson; María Isabel Gaillard
Journal:  J Clin Immunol       Date:  2015-03-11       Impact factor: 8.317

8.  In vivo analysis of growth hormone receptor signaling domains and their associated transcripts.

Authors:  Jennifer E Rowland; Agnieszka M Lichanska; Linda M Kerr; Mary White; Elisabetta M d'Aniello; Sheryl L Maher; Richard Brown; Rohan D Teasdale; Peter G Noakes; Michael J Waters
Journal:  Mol Cell Biol       Date:  2005-01       Impact factor: 4.272

9.  Severe short stature and endogenous growth hormone resistance in twin brothers without growth hormone gene mutations.

Authors:  Emily C Walvoord; Kyle W Sloop; Conor J Dwyer; Simon J Rhodes; Ora H Pescovitz
Journal:  Endocrine       Date:  2003-08       Impact factor: 3.633

10.  A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans.

Authors:  Akihisa Sawada; Yoshihiro Takihara; Ji Yoo Kim; Yoshiko Matsuda-Hashii; Sadao Tokimasa; Hiroyuki Fujisaki; Keiko Kubota; Hiroko Endo; Takashi Onodera; Hideaki Ohta; Keiichi Ozono; Junichi Hara
Journal:  J Clin Invest       Date:  2003-12       Impact factor: 14.808
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